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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
1989 1
1990 4
1991 2
1992 2
1993 4
1994 2
1995 1
1996 2
1997 1
1998 2
1999 1
2002 3
2003 5
2004 1
2005 4
2006 4
2007 6
2008 5
2009 8
2010 6
2011 7
2012 8
2013 11
2014 11
2015 4
2016 6
2017 13
2018 12
2019 7
2020 6
2021 13
2022 7
2023 6
2024 4

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Search Results

158 results

Results by year

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Page 1
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: houge g. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.
Hirschenberger M, Lepelley A, Rupp U, Klute S, Hunszinger V, Koepke L, Merold V, Didry-Barca B, Wondany F, Bergner T, Moreau T, Rodero MP, Rösler R, Wiese S, Volpi S, Gattorno M, Papa R, Lynch SA, Haug MG, Houge G, Wigby KM, Sprague J, Lenberg J, Read C, Walther P, Michaelis J, Kirchhoff F, de Oliveira Mann CC, Crow YJ, Sparrer KMJ. Hirschenberger M, et al. Among authors: houge g. Nat Commun. 2023 Nov 1;14(1):6770. doi: 10.1038/s41467-023-42150-4. Nat Commun. 2023. PMID: 37914730 Free PMC article.
PPP2R1A-Related Neurodevelopmental Disorder.
Douzgou S, Janssens V, Houge G. Douzgou S, et al. Among authors: houge g. 2022 May 12. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2022 May 12. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 35593790 Free Books & Documents. Review.
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Among authors: houge g. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.
Pathomechanisms of renal Fabry disease.
Eikrem Ø, Skrunes R, Tøndel C, Leh S, Houge G, Svarstad E, Marti HP. Eikrem Ø, et al. Among authors: houge g. Cell Tissue Res. 2017 Jul;369(1):53-62. doi: 10.1007/s00441-017-2609-9. Epub 2017 Apr 12. Cell Tissue Res. 2017. PMID: 28401309 Review. No abstract available.
[More accurate fetal diagnostics].
Sørensen IW, Glad R, Houge G, Blomhoff A, Haug MG, Steen VM. Sørensen IW, et al. Among authors: houge g. Tidsskr Nor Laegeforen. 2021 Oct 7;141(2021-14). doi: 10.4045/tidsskr.21.0424. Print 2021 Oct 12. Tidsskr Nor Laegeforen. 2021. PMID: 34641655 Free article. Norwegian. No abstract available.
Dominant ARL3-related retinitis pigmentosa.
Holtan JP, Teigen K, Aukrust I, Bragadóttir R, Houge G. Holtan JP, et al. Among authors: houge g. Ophthalmic Genet. 2019 Apr;40(2):124-128. doi: 10.1080/13816810.2019.1586965. Epub 2019 Apr 1. Ophthalmic Genet. 2019. PMID: 30932721
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Husain RA, et al. Among authors: houge g. Brain. 2024 Apr 4;147(4):1197-1205. doi: 10.1093/brain/awad434. Brain. 2024. PMID: 38141063
Keloids in Rubinstein-Taybi syndrome: a clinical study.
van de Kar AL, Houge G, Shaw AC, de Jong D, van Belzen MJ, Peters DJ, Hennekam RC. van de Kar AL, et al. Among authors: houge g. Br J Dermatol. 2014 Sep;171(3):615-21. doi: 10.1111/bjd.13124. Epub 2014 Aug 21. Br J Dermatol. 2014. PMID: 25132000 Review.
[Fetal valproate syndrome].
Houge G, Fiskerstrand T, Øyen N. Houge G, et al. Tidsskr Nor Laegeforen. 2003 Aug 28;123(16):2331. Tidsskr Nor Laegeforen. 2003. PMID: 14508573 Free article. Norwegian. No abstract available.
158 results